DNAJC24 DnaJ heat shock protein family (Hsp40) member C24
Gene ID: 120526, updated on 28-Oct-2024Gene type: protein coding
Also known as: DPH4; JJJ3; ZCSL3
- See all available tests in GTR for this gene
- Go to complete Gene record for DNAJC24
- Go to Variation Viewer for DNAJC24 variants
Summary
Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH4 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM, Mar 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative. GeneReviews: Not available |
Genomic context
- Location:
- 11p13
- Sequence:
- Chromosome: 11; NC_000011.10 (31369860..31432835)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DNAJC24 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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